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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIP11
(R1571H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TRIP11
(E712K +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+4 more
GBenign/Likely benign
TRIP11
(E430G +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TRIP11
(D36V)
Single nucleotide variant
(missense variant)
Odontochondrodysplasia 1
+3 more
GBenign/Likely benign
TRIP11
Single nucleotide variant
(5 prime UTR variant)
Achondrogenesis, type IA
+1 more
GUncertain significance
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